Varaico: Literature-Extracted Genetic Variants

ARID1A

2,994 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure aroun...

Pfam Domains

ARIDaa 1019–1104UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 1976–2231UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1A

HGNC Previous Symbols

C1orf4; SMARCF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_006015.6

p.E78*

c.232G>T

Surrounding Variants

2 papers

NM_006015.6

p.E78K

c.232G>A

2 papers

NM_006015.6

p.E78fs

c.232_233fs

1 paper

NM_006015.6

p.E78V

c.233A>T

1 paper

NM_006015.6

p.A77A

c.231C>T

1 paper

NM_006015.6

p.A77G

c.230C>G

1 paper

NM_006015.6

p.A77T

c.229G>A

1 paper

NM_006015.6

p.A77S

c.229G>T

2 papers

NM_006015.6

p.G76G

c.228G>A

1 paper

NM_006015.6

p.G76G

c.228G>T

1 paper

NM_006015.6

p.S79R

c.237C>G

1 paper

NM_006015.6

p.N80H

c.238A>C

1 paper

NM_006015.6

p.N80_G82delFs

c.239_245del7